EPILEPSY, ABSENCE

CACNA1H, CLCN2, EFHC1, GABRA1, GABRA5, GABRB3, GABRG2, SLC2A1, SLC6A1

Description

Scientific Background

  • Childhood Absence Epilepsy Type 2 (ECA2) (GABRG2)
  • Childhood Absence Epilepsy Type 4 (ECA4) (GABRA1)
  • Childhood Absence Epilepsy Type 5 (ECA5) (GABRB3)
  • Childhood Absence Epilepsy Type 6 (ECA6) (CACNA1H)
  • Epilepsy with Myoclonic-Atonic Seizures (MAE) (SLC6A1)
  • Idiopathic Generalized Epilepsy with Absences (SLC2A1)
  • Juvenile Absence Epilepsy (EFHC1)
  • Juvenile Absence Epilepsy Type 2 (CLCN2)
  • Juvenile/Childhood Absence Epilepsy (GABRA5)

 

All disorders are inherited in an autosomal dominant pattern. Genes in bold are core genes.

 

For detailed information on epilepsies and diagnostics, please visit our overview page EPILEPSY.

GENES

CACNA1H, CLCN2, EFHC1, GABRA1, GABRA5, GABRB3, GABRG2, SLC2A1, SLC6A1
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